טוען...
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy
IMPORTANCE: Homozygous variants in the neuronal ceroid lipofuscinosis type 5 (CLN5) gene are associated with neuronal ceroid lipofuscinosis, a progressive neurologic disorder that leads to ataxia, seizures, and early death. The association between a homozygous variant in this gene and a macular dyst...
שמור ב:
| הוצא לאור ב: | JAMA Ophthalmol |
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| Main Authors: | , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
American Medical Association
2021
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7844694/ https://ncbi.nlm.nih.gov/pubmed/33507209 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2020.6085 |
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